Branchiootorenal Syndrome 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Branchiootorenal Syndrome 2

MalaCards integrated aliases for Branchiootorenal Syndrome 2:

Name: Branchiootorenal Syndrome 2 ⁵⁷ ⁷⁴ ²⁹ ¹³ ⁶ ⁷²

Bor2 ⁵⁷ ⁷⁴

Branchio-Oto-Renal Syndrome Type 2 ⁷⁴

Branchiootorenal Syndrome, Type 2 ⁴⁰

Branchio-Oto-Renal Dysplasia 2 ⁷⁴

Branchiootorenal Dysplasia 2 ⁷⁴

Bor Syndrome 2 ⁷⁴

Characteristics:

HPO:

³²

branchiootorenal syndrome 2:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Nephrological diseases Ear diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 610896

MeSH ⁴⁴ D019280

MedGen ⁴² C1970479

UMLS ⁷² C1970479

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Summaries for Branchiootorenal Syndrome 2

UniProtKB/Swiss-Prot : ⁷⁴ Branchiootorenal syndrome 2: A syndrome characterized by branchial cleft fistulas or cysts, sensorineural and/or conductive hearing loss, pre-auricular pits, structural defects of the outer, middle or inner ear, and renal malformations.

MalaCards based summary : Branchiootorenal Syndrome 2, is also known as bor2. An important gene associated with Branchiootorenal Syndrome 2 is SIX5 (SIX Homeobox 5). Affiliated tissues include skin, and related phenotypes are hearing impairment and renal insufficiency

More information from OMIM: 610896

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Related Diseases for Branchiootorenal Syndrome 2

Diseases in the Branchiootorenal Syndrome family:

Branchiootorenal Syndrome 1	Branchiootorenal Syndrome 2
Branchiootorenal Spectrum Disorder

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Symptoms & Phenotypes for Branchiootorenal Syndrome 2

Human phenotypes related to Branchiootorenal Syndrome 2:

³²

#	Description	HPO Source Accession
1	hearing impairment ³²	HP:0000365
2	renal insufficiency ³²	HP:0000083
3	preauricular skin tag ³²	HP:0000384
4	renal dysplasia ³²	HP:0000110
5	hemifacial hypoplasia ³²	HP:0011332

Clinical features from OMIM:

610896

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Drugs & Therapeutics for Branchiootorenal Syndrome 2

Search Clinical Trials , NIH Clinical Center for Branchiootorenal Syndrome 2

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Genetic Tests for Branchiootorenal Syndrome 2

Genetic tests related to Branchiootorenal Syndrome 2:

#	Genetic test	Affiliating Genes
1	Branchiootorenal Syndrome 2 ²⁹	SIX5

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Anatomical Context for Branchiootorenal Syndrome 2

MalaCards organs/tissues related to Branchiootorenal Syndrome 2:

⁴¹

Skin

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Publications for Branchiootorenal Syndrome 2

Articles related to Branchiootorenal Syndrome 2:

#	Title	Authors	PMID	Year
1	Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations. ⁸ ⁷¹	Krug P...Heidet L	21280147	2011
2	Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome. ⁸ ⁷¹	Hoskins BE...Hildebrandt F	17357085	2007
3	A map of the interactome network of the metazoan C. elegans. ⁸	Li S...Vidal M	14704431	2004
4	Branchiootorenal Spectrum Disorder ⁷¹	Smith RJH	20301554	1999
5	Linking hydrogen-mediated boron toxicity tolerance with improvement of root elongation, water status and reactive oxygen species balance: a case study for rice. ³⁸	Wang Y...Shen W	27616208	2016
6	Roles of BOR2, a boron exporter, in cross linking of rhamnogalacturonan II and root elongation under boron limitation in Arabidopsis. ³⁸	Miwa K...Fujiwara T	24114060	2013
7	Combination of high-dose melphalan and bortezomib as conditioning regimen for autologous peripheral blood stem cell transplantation in multiple myeloma. ³⁸	Miyamoto T...Akashi K	23877150	2013
8	[Cloning a gene related to resistance to TuMV in cabbage]. ³⁸	Cao BH...Yang ZH	12143316	2002
9	Allelism of pleiotropic drug resistance in Saccharomyces cerevisiae. ³⁸	Saunders GW...Rank GH	6762918	1982

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Genes for Branchiootorenal Syndrome 2

Genes related to Branchiootorenal Syndrome 2 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SIX5	SIX Homeobox 5	Protein Coding	1327.8	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁴ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	17357085 20301554 21280147
2	DM1-AS	DM1 Locus Antisense RNA	RNA Gene	8.09	GeneCards inferred via : Variants (show sections)

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Variations for Branchiootorenal Syndrome 2

ClinVar genetic disease variations for Branchiootorenal Syndrome 2:

⁶

#	Gene	Variation	Type	Significance	SNP ID	GRCh37 Pos	GRCh38 Pos
1	SIX5	NM_175875.5(SIX5): c.886G> A (p.Ala296Thr)	single nucleotide variant	Pathogenic	rs80356462	19:46270331-46270331	19:45767073-45767073
2	SIX5	NM_175875.5(SIX5): c.1093G> A (p.Gly365Arg)	single nucleotide variant	Pathogenic	rs80356463	19:46270124-46270124	19:45766866-45766866
3	SIX5	NM_175875.5(SIX5): c.1655C> T (p.Thr552Met)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs80356464	19:46269324-46269324	19:45766066-45766066
4	SIX5	NM_175875.5(SIX5): c.472G> A (p.Ala158Thr)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs80356461	19:46271631-46271631	19:45768373-45768373
5	SIX5	NM_175875.5(SIX5): c.1261G> A (p.Val421Ile)	single nucleotide variant	Uncertain significance	rs1057519372	19:46269956-46269956	19:45766698-45766698
6	SIX5	NM_175875.5(SIX5): c.2077G> A (p.Val693Met)	single nucleotide variant	Benign	rs2341097	19:46268902-46268902	19:45765644-45765644

UniProtKB/Swiss-Prot genetic disease variations for Branchiootorenal Syndrome 2:

⁷⁴

#	Symbol	AA change	Variation ID	SNP ID
1	SIX5	p.Ala158Thr	VAR_032941	rs80356461
2	SIX5	p.Ala296Thr	VAR_032942	rs80356462
3	SIX5	p.Gly365Arg	VAR_032943	rs80356463
4	SIX5	p.Thr552Met	VAR_032944	rs80356464

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Expression for Branchiootorenal Syndrome 2

Search GEO for disease gene expression data for Branchiootorenal Syndrome 2.

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Pathways for Branchiootorenal Syndrome 2

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GO Terms for Branchiootorenal Syndrome 2

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Branchiootorenal Syndrome 2 (BOR2)

Aliases & Classifications for Branchiootorenal Syndrome 2

MalaCards integrated aliases for Branchiootorenal Syndrome 2:

Characteristics:

HPO:

Classifications:

External Ids:

Summaries for Branchiootorenal Syndrome 2

Related Diseases for Branchiootorenal Syndrome 2

Diseases in the Branchiootorenal Syndrome family:

Symptoms & Phenotypes for Branchiootorenal Syndrome 2

Human phenotypes related to Branchiootorenal Syndrome 2:

Clinical features from OMIM:

Drugs & Therapeutics for Branchiootorenal Syndrome 2

Genetic Tests for Branchiootorenal Syndrome 2

Genetic tests related to Branchiootorenal Syndrome 2:

Anatomical Context for Branchiootorenal Syndrome 2

MalaCards organs/tissues related to Branchiootorenal Syndrome 2:

Publications for Branchiootorenal Syndrome 2

Articles related to Branchiootorenal Syndrome 2:

Genes for Branchiootorenal Syndrome 2

Genes related to Branchiootorenal Syndrome 2 (1 elite genes):

Variations for Branchiootorenal Syndrome 2

ClinVar genetic disease variations for Branchiootorenal Syndrome 2:

UniProtKB/Swiss-Prot genetic disease variations for Branchiootorenal Syndrome 2:

Expression for Branchiootorenal Syndrome 2

Pathways for Branchiootorenal Syndrome 2

GO Terms for Branchiootorenal Syndrome 2

Sources for Branchiootorenal Syndrome 2